Canonical Allele Identifier: CA334046577

Gene: COL4A5

Linked Data

• dbSNP Id: rs768208919
• gnomAD v2: X-107911333-T-C
• gnomAD v3: X-108668103-T-C
• gnomAD v4: X-108668103-T-C
• MyVariant Identifiers: chrX:g.107911333T>C (hg19) ; chrX:g.108668103T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108668103T>C , CM000685.2:g.108668103T>C	GRCh38
NC_000023.10:g.107911333T>C , CM000685.1:g.107911333T>C	GRCh37
NC_000023.9:g.107797989T>C	NCBI36
NG_011977.1:g.233180T>C
NG_011977.2:g.233180T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.3605-216T>C MANE Select	ENSP00000331902.7:n.3605-216T>C
ENST00000361603.7:c.3605-216T>C	ENSP00000354505.2:n.3605-216T>C
ENST00000328300.10:c.3605-216T>C	ENSP00000331902.6:n.3605-216T>C
ENST00000361603.6:c.3605-216T>C	ENSP00000354505.2:n.3605-216T>C
NM_000495.4:c.3605-216T>C	NP_000486.1:n.3605-216T>C
NM_033380.2:c.3605-216T>C	NP_203699.1:n.3605-216T>C
XM_005262070.2:c.3605-216T>C	XP_005262127.1:n.3605-216T>C
XM_006724616.2:c.3605-216T>C	XP_006724679.1:n.3605-216T>C
XM_011530849.1:c.3281-216T>C	XP_011529151.1:n.3281-216T>C
XM_011530850.1:c.3605-216T>C	XP_011529152.1:n.3605-216T>C
XM_011530851.1:c.1178-216T>C	XP_011529153.1:n.1178-216T>C
XM_011530849.2:c.3620-216T>C	XP_011529151.2:n.3620-216T>C
XM_017029259.2:c.3620-216T>C	XP_016884748.1:n.3620-216T>C
XM_017029260.1:c.3620-216T>C	XP_016884749.1:n.3620-216T>C
XM_017029261.1:c.3620-216T>C	XP_016884750.1:n.3620-216T>C
XM_017029262.2:c.3620-216T>C	XP_016884751.1:n.3620-216T>C
XM_017029263.2:c.1940-216T>C	XP_016884752.1:n.1940-216T>C
NM_000495.5:c.3605-216T>C	NP_000486.1:n.3605-216T>C
NM_033380.3:c.3605-216T>C MANE Select	NP_203699.1:n.3605-216T>C